Amino Acid DisordersNewborn ScreeningRUSP
Argininosuccinic Aciduria
ASA
Argininosuccinic aciduria results from argininosuccinate lyase deficiency and disrupts the urea cycle, causing ammonia accumulation and chronic complications including hepatic involvement and trichorrhexis nodosa in some patients. Prompt recognition and protein intake management, medications, and emergency protocols for illness are essential. Newborn screening supports early diagnosis before severe neonatal presentation.
- Prevalence
- 1 in 70,000
- Inheritance
- Autosomal recessive
- Screened at Birth
- Yes
- On RUSP
- Yes (Recommended Uniform Screening Panel)
About This Data
This disorder is part of the Cureledger rare disease data corpus. We are building privacy-preserving natural history datasets and advocacy tools for rare disease communities. Data is maintained by clinical advisors and the patient community.